A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5722284



Internal ID21748605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:64795686..64795686hg38UCSC Ensembl
chr16:64829589..64829589hg19UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg382775
hg192775
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17246240
Samples
Known Genes
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a L1 mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5722284
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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